ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.42(chr19:53601298-53773028)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
DPRX | - | - |
GRCh38 GRCh37 |
9 | 33 | |
MIR1283-1 | - | - | GRCh38 | - | 12 | |
MIR1283-2 | - | - | GRCh38 | - | 13 | |
MIR1323 | - | - | GRCh38 | - | 12 | |
MIR498 | - | - | GRCh38 | - | 12 | |
MIR512-1 | - | - | GRCh38 | - | 12 | |
MIR512-2 | - | - | GRCh38 | - | 12 | |
MIR515-1 | - | - | GRCh38 | - | 12 | |
MIR515-2 | - | - | GRCh38 | - | 12 | |
MIR516A1 | - | - | GRCh38 | - | 13 |
There are 37 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052594.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024